Works matching IS 03406717 AND DT 2002 AND VI 110 AND IP 4
Results: 13
The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin.
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- Human Genetics, 2002, v. 110, n. 4, p. 377, doi. 10.1007/s00439-002-0696-4
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- Article
Genetic variation in α<sub>1</sub>-antichymotrypsin and its association with Alzheimer's disease.
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- Human Genetics, 2002, v. 110, n. 4, p. 356, doi. 10.1007/s00439-002-0697-3
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- Article
Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene.
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- Human Genetics, 2002, v. 110, n. 4, p. 302, doi. 10.1007/s00439-002-0698-2
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A locus for hereditary capillary malformations mapped on chromosome 5q.
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- Human Genetics, 2002, v. 110, n. 4, p. 343, doi. 10.1007/s00439-002-0700-z
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Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.
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- Human Genetics, 2002, v. 110, n. 4, p. 327, doi. 10.1007/s00439-002-0686-6
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- Article
Molecular characterization of a ring X chromosome in a male with short stature.
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- Human Genetics, 2002, v. 110, n. 4, p. 322, doi. 10.1007/s00439-002-0685-7
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- Article
Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.
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- Human Genetics, 2002, v. 110, n. 4, p. 314, doi. 10.1007/s00439-002-0704-8
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- Article
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
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- Human Genetics, 2002, v. 110, n. 4, p. 351, doi. 10.1007/s00439-002-0701-y
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- Article
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.
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- Human Genetics, 2002, v. 110, n. 4, p. 371, doi. 10.1007/s00439-002-0699-1
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- Article
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
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- Human Genetics, 2002, v. 110, n. 4, p. 366, doi. 10.1007/s00439-002-0689-3
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- Article
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25.
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- Human Genetics, 2002, v. 110, n. 4, p. 348, doi. 10.1007/s00439-002-0690-x
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- Article
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
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- Human Genetics, 2002, v. 110, n. 4, p. 297, doi. 10.1007/s00439-002-0695-5
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- Article
Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA.
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- Human Genetics, 2002, v. 110, n. 4, p. 334, doi. 10.1007/s00439-002-0687-5
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- Article